R8R (p.Arg8Arg) variant of NF2 (Merlin)
R8R (p.Arg8Arg) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- rs749452887
- gnomAD 22-29604022-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 14.80
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available